OMIM = Online Medalian Inheritance of Men
  • adenine
  • allopurinol
  • D-ribose
rare (<1:1000000)
autosomal recessive
mutation in the ADSL gene
positive Bratton-Marshall-Test
3 different forms:
- fatal neonatal
- type I (severe form)
- type II (mild/moderate form)
behavior, autism or autistic-like
cerebellar atrophy or hypoplasia
developmental delay
growth retardation, poor growth
hypertonia, spasticity
intellectual disability/intellectual developmental disorder (ID/ IDD)
intrauterine growth retardation
low set ears
mental retardation
microcephaly (<2 SD for age)
onset, infancy
onset, neonatal
psychomotor retardation
spastic diplegia/quadriplegia/tetraplegia
laboratory finding
Adenylosuccinase 100.00decreased activityliver
Adenylosuccinase 100.00decreased activitykidney
Succinylamino-imidazole carboxamide riboside0.000.00 mmol/mol creatinineurine
Succinylamino-imidazole carboxamide riboside increasedplasma
Succinylamino-imidazole carboxamide riboside 0.000.00increasedcerebrospinal fluid
Succinyladenosine 0.000.00increasedcerebrospinal fluid
Succinyladenosine1.5021.300.061.04+€mol/ldried blood spot
Succinyladenosine100.00300.00 mmol/mol creatinineurine
CT, brain, abnormalities -
MRI, brain, abnormalities -
Bratton-Marshall test positiveurine
Adenosine2.002000.00 mmol/mol creatinineurine
2-Deoxyadenosine mmol/mol Creaurine
Kashtan CEFamilial hematuria due to type IV collagen mutations: alport syndrome and thin basement membrane nephropathyCurr Opin Pediatr162177-1812004
Danpure CJMolecular aetiology of primary hyperoxaluria type 1Nephron Exp Nephrol982e39-442004
Youngblom E,Pariani M, Knowles JWFamilial HypercholesterolemiaGeneReviews-« Internet002016
Z+€chner S,et al.Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosaAm J Hum Genet882201-2062011
Varghese MJFamilial hypercholesterolemia: A reviewAnn Pediatr Cardiol72107-1172014
Mason PJ,Bautista JM, Gilsanz FG6PD deficiency: the genotype-phenotype associationBlood Rev215267-2832007
Goebel HHThe neuronal ceroid-lipofuscinosesJ Child Neurolinf neur ceroid-lipofuscinosis CLN1 1p32 juv neu cereid-lipofuscinosis, CLN3 6p12.1-11.2 late inf neu 13q31-32106424-4371995
van Dijk R,Beuers U, Bosma PJGene replacement therapy for genetic hepatocellular jaundiceClin Rev Allergy Immunol482243-2532015
Fujii T,et al.Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide surveyBrain Dev387628-6372016
Moosavi-Movahedi AAet al.QSAR analysis for ADA upon interaction with a series of adenine derivatives as inhibitorsNucleosides Nucleotides Nucleic Acids233613-6242004
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Hecker PA,et al.Impact of glucose-6-phosphate dehydrogenase deficiency on the pathophysiology of cardiovascular diseaseAm J Physiol Heart Circ Physiol3044H491-5002013
Takenaka Set al.Feeding dried purple laver (nori) to vitamin B12-deficient rats significantly improves vitamin B12 statusBr J Nutr856699-7032001
Jarosz MIrga N, Wierzba JVitamin B(12) deficiency anaemia in a 7.5 months old girlMed Wieku Rozwoj80283-2882004
Rost Set al.Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factorsBr J Haematol1260546-5492004
Danpure CJRumsby GMolecular aetiology of primary hyperoxaluria and its implications for clinical managementExpert Rev Mol Med200401-162004
Sewell ACGehler J, Docktor GLow fibroblast fucosidosis activity: false-positive diagnosis of fucosidosis in a patient with pseudohypoparathyroidismJ Inherit Metab Dis100197-1981987
Memon N,et al.Inherited disorders of bilirubin clearancePediatr Res793378-3862016
Hosain Set al.Diagnoses of neuronal ceroid-lipofuscinosis by immunochemical methodsAm J Med Genet572239-2451995
Cappellini MD,Fiorelli GGlucose-6-phosphate dehydrogenase deficiencyLancet371960664-742008
Bartsocas CS,Crawford JDClinical phenotypes in kidney transport disordersBirth Defects Orig Artic Ser104119-1261974
Broyer Met al.Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamineJ Inherit Metab Dis19067-751996
Goebel HHet al.Significance of lipopigments with fingerprint profiles in eccrine sweat gland epithelial cellsAm J Med Genet572187-1901995
Nardocci Net al.Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patientsAm J Med Genet572137-1411995
Vesa Jet al.Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosisNature3760584-5871995
Zhang Bet al.Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disordersJ Thromb Haemost291564-15722004
Willems PJet al.Fucosidosis revisited: a review of 77 patientsAm J Med Genet380111-1311991
Grewal Set al.Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up reportBone Marrow Transplant329957-9602003
Suzuki KGloboid cell leukodystrophy (Krabbes disease): updateJ Child Neurol189595-6032003
Lam BL,et al.Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosaAdv Exp Med Biol8010165-1702014
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993
Caniglia Met al.Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbes disease)Pediatr Transplant65427-4312002
Webster KECramer SDGenetic basis of primary hyperoxaluria type IIMol Urol44355-3642000
Durand Det al.Psychiatric manifestations of vitamin B12 deficiency: a case reportEncephale296560-5652003